title: Current landscape and new paradigms of proficiency testing and external quality assessment for molecular genetics.
abstract: BACKGROUND
  Participation in proficiency testing (PT) or external quality assessment (EQA) programs allows the assessment and comparison of test performance among different clinical laboratories and technologies. In addition to the approximately 2300 tests for individual genetic disorders, recent advances in technology have enabled the development of clinical tests that quickly and economically analyze the entire human genome. New PT/EQA approaches are needed to ensure the continued quality of these complex tests.
  
  
  OBJECTIVE
  To review the availability and scope of PT/EQA for molecular genetic testing for inherited conditions in Europe, Australasia, and the United States; to evaluate the successes and demonstrated value of available PT/EQA programs; and to examine the challenges to the provision of comprehensive PT/EQA posed by new laboratory practices and methodologies.
  
  
  METHODS
  The available literature on this topic was reviewed and supplemented with personal experiences of several PT/EQA providers.
  
  
  CONCLUSIONS
  Proficiency testing/EQA schemes are available for common genetic disorders tested in many clinical laboratories but are not available for most genetic tests offered by only one or a few laboratories. Provision of broad, method-based PT schemes, such as DNA sequencing, would allow assessment of many tests for which formal PT is not currently available. Participation in PT/EQA improves the quality of testing by identifying inaccuracies that laboratories can trace to errors in their testing processes. Areas of research and development to ensure that PT/EQA programs can meet the needs of new and evolving genetic tests and technologies are identified and discussed.
authors.affiliation: Laboratory Research and Evaluation Branch, Division of Laboratory Science and Standards, Office of Surveillance, Epidemiology, and Laboratory Services, Centers for Disease Control and Prevention, Atlanta, Georgia 30333, USA. LKalman@cdc.gov
authors.forename: Lisa V
authors.initials: LV
authors.lastname: Kalman
authors.forename: Ira M
authors.initials: IM
authors.lastname: Lubin
authors.forename: Shannon
authors.initials: S
authors.lastname: Barker
authors.forename: Desiree
authors.initials: D
authors.lastname: du Sart
authors.forename: Rob
authors.initials: R
authors.lastname: Elles
authors.forename: Wayne W
authors.initials: WW
authors.lastname: Grody
authors.forename: Mario
authors.initials: M
authors.lastname: Pazzagli
authors.forename: Sue
authors.initials: S
authors.lastname: Richards
authors.forename: Iris
authors.initials: I
authors.lastname: Schrijver
authors.forename: Barbara
authors.initials: B
authors.lastname: Zehnbauer
mesh_terms: D030342:Genetic Diseases, Inborn / Q000175:diagnosis*; D006801:Humans; D059021:Laboratory Proficiency Testing / Q000379:methods*; D025202:Molecular Diagnostic Techniques / Q000592:standards*; D057089:Pathology, Molecular / Q000592:standards*; D011785:Quality Assurance, Health Care